ClinVar Miner

Submissions for variant NM_000138.5(FBN1):c.1335G>T (p.Leu445=)

dbSNP: rs2505617824
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002880898 SCV003235334 likely benign Marfan syndrome; Familial thoracic aortic aneurysm and aortic dissection 2024-11-18 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV003528414 SCV004357473 likely benign Familial thoracic aortic aneurysm and aortic dissection 2021-10-26 criteria provided, single submitter clinical testing

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